Canonical Allele Identifier: CA8337965
Gene: ACADVL HGNC NCBI

Linked Data

ClinVar Variation Id: 439360
dbSNP Id: rs776063244
gnomAD v2: 17-7126477-A-C
gnomAD v4: 17-7223158-A-C

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7223158A>C , CM000679.2:g.7223158A>C GRCh38
NC_000017.10:g.7126477A>C , CM000679.1:g.7126477A>C GRCh37
NC_000017.9:g.7067201A>C NCBI36
NG_007975.1:g.8325A>C
NG_008391.2:g.1893T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000356839.10:c.1103A>C MANE Select ENSP00000349297.5:p.Gln368Pro
ENST00000322910.9:c.*1058A>C ENSP00000325395.5:n.*1058A>C
ENST00000350303.9:c.1037A>C ENSP00000344152.5:p.Gln346Pro
ENST00000356839.9:c.1103A>C ENSP00000349297.5:p.Gln368Pro
ENST00000543245.6:c.1172A>C ENSP00000438689.2:p.Gln391Pro
ENST00000578579.2:n.52A>C
ENST00000578824.5:n.519A>C
ENST00000579425.5:n.127A>C
ENST00000582379.1:n.754A>C
ENST00000583858.5:c.132A>C
ENST00000585203.6:n.311A>C
NM_000018.3:c.1103A>C NP_000009.1:p.Gln368Pro
NM_001033859.2:c.1037A>C NP_001029031.1:p.Gln346Pro
NM_001270447.1:c.1172A>C NP_001257376.1:p.Gln391Pro
NM_001270448.1:c.875A>C NP_001257377.1:p.Gln292Pro
XM_006721516.2:c.1103A>C XP_006721579.2:p.Gln368Pro
XM_011523829.1:c.1103A>C XP_011522131.1:p.Gln368Pro
XM_011523830.1:c.1103A>C XP_011522132.1:p.Gln368Pro
XR_934021.1:n.1210A>C
XR_934022.1:n.1210A>C
XR_934023.1:n.1210A>C
XM_006721516.3:c.1103A>C XP_006721579.2:p.Gln368Pro
XM_011523829.2:c.1103A>C XP_011522131.1:p.Gln368Pro
XM_011523830.2:c.1103A>C XP_011522132.1:p.Gln368Pro
XM_024450741.1:c.1103A>C XP_024306509.1:p.Gln368Pro
XR_934021.2:n.1162A>C
XR_934022.2:n.1162A>C
XR_934023.2:n.1162A>C
NM_000018.4:c.1103A>C MANE Select NP_000009.1:p.Gln368Pro
NM_001033859.3:c.1037A>C NP_001029031.1:p.Gln346Pro
NM_001270447.2:c.1172A>C NP_001257376.1:p.Gln391Pro
NM_001270448.2:c.875A>C NP_001257377.1:p.Gln292Pro